Spontaneous intracerebral hemorrhage in Urbach-Wiethe disease

Messina et al.1 presented a 39-year-old woman with Urbach-Wiethe disease or lipoid proteinosis (LP) who developed right hemiparesis due to a left lenticular nucleus hemorrhage. The authors suggested that LP is associated with diffuse small-vessel disease. LP is a rare autosomal recessive disease due to mutations in the extracellular matrix protein 1 (ECM1) gene.2 ECM1, the protein mutated in LP, is expressed around the blood vessels and involved in angiogenesis. This abnormality could explain the susceptibility of brain blood vessel rupture.1 We published a case report of generalized dystonia and striatal calcifications in a patient with LP.3 Family history was positive for a 34-year-old sister diagnosed with LP who had epilepsy and mild mental retardation.3 This patient later developed a sudden right hemiplegia and brain MRI showed a massive hemorrhage in the left fronto-temporo-parietal lobe. The patient had neurosurgery and an extensive workup, including cerebral angiography, which was normal. This case report confirms the association of LP and brain hemorrhage, not only with small deep brain hemorrhage, but also with large brain hematoma.